GenTIGS

List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.

View information by inheritance mode

S.No.	Genetic Disorders Modes of inheritance	Category	Gene symbol	Indian context	Links
451	T-cell large granular lymphocyte leukemia	Blood disorders	STAT3 signal transducer and activator of transcription 3	Reports Updated as of Feb 20, 2024	PubMed
452	Tarsal-carpal coalition syndrome Autosomal dominant	Bone disorders	NOG noggin	Reports Updated as of Feb 01, 2024	PubMed
453	Thanatophoric dysplasia Autosomal dominant	Bone disorders	FGFR3 fibroblast growth factor receptor 3	Reports Updated as of Nov 30, 2023	PubMed
454	TNF receptor-associated periodic fever syndrome Autosomal dominant	Immune disorders	TNFRSF1A TNF receptor superfamily member 1A	Reports Updated as of Sep 05, 2023	PubMed
455	Transverse myelitis	Immune disorders	VPS37A VPS37A subunit of ESCRT-I	Reports Updated as of Sep 05, 2023	PubMed
456	Trichorhinophalangeal syndrome Autosomal dominant	Bone disorders	TRPS1 transcriptional repressor GATA binding 1	Reports Updated as of Dec 29, 2023	PubMed
457	Triglyceride storage disease with ichthyosis Autosomal recessive	Metabolic disorders/Lysosomal storage disorders	ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase	Reports Updated as of Mar 09, 2023	PubMed
458	Trigonocephaly-short stature-developmental delay syndrome X-linked recessive	Neurodevelopmental disorders	HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1	Reports Updated as of Nov 12, 2025	PubMed
459	Trimethylaminuria Autosomal recessive	Metabolic disorders	FMO3 flavin containing dimethylaniline monoxygenase 3	Reports Updated as of Mar 09, 2023	PubMed
460	Tyrosinemia type 1 Autosomal recessive	Metabolic disorders	FAH fumarylacetoacetate hydrolase	Reports Updated as of Dec 29, 2023	PubMed

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